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NRDE2
Identifiers
Aliases	NRDE2, C14orf102, NRDE-2, necessary for RNA interference, domain containing
External IDs	MGI: 2670969; GeneCards: NRDE2
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.11 Start 90,267,860 bp[1] End 90,331,969 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 E Start 100,091,711 bp[2] End 100,125,912 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve testicle bone marrow cell gonad Achilles tendon right lobe of liver gastrocnemius muscle muscle of thigh mucosa of transverse colon islet of Langerhans Top expressed in interventricular septum Gonadal ridge Rostral migratory stream primitive streak otic vesicle renal corpuscle granulocyte epiblast hair follicle blood More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component catalytic step 2 spliceosome cellular component Biological process heterochromatin assembly by small RNA RNA interference biological process Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 55051 217827 Ensembl ENSG00000119720 ENSMUSG00000021179 UniProt Q9H7Z3 Q80XC6 RefSeq (mRNA) NM_017970 NM_199043 NM_001290303 NM_183155 NM_001377383 RefSeq (protein) NP_060440 NP_001277232 NP_898978 NP_001364312 Location (UCSC) Chr 14: 90.27 – 90.33 Mb Chr 12: 100.09 – 100.13 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Nuclear exosome regulator NRDE2 is a protein which in humans is encoded by the gene NRDE2 (previously C14orf102).^[5][6] The protein NRDE2 functions as an RNA regulator through its interaction with MTREX.^[6] In particular, it regulates RNA degradation, and the transport of RNA out of the nucleus.^[6]

According to EST profiles, C14orf102 is most highly expressed in the esophagus (98 TPM) and trachea (76), and is further expressed in multiple different tissues.^[7] However, the AceView summary suggests that this gene is expressed most highly in the brain, followed by decreased expression in 81 separate tissues. This is inferred in the reconstruction of the mRNA sequence, as well as exon sequencing, in that the majority of cDNA clones used for each procedure were found in the brain. This is consistent with GenBank record, which indicates that the cDNA clone was also isolated from brain tissue. The general expression of the gene is high, being 1.8 times that of average gene expression.

The protein contains five HAT (histone acetyltransferase) domains, a coiled coil domain, a domain of unknown function, a lysine-rich region, and a poly-lysine and serine region. Further post-translational modifications include phosphorylation and mono-methylation sites.^[8] Because the protein is considered to be a part of a family of Up-frameshift proteins, it is expected to function in protein binding and to be located in the cytoplasm. Certain UPF proteins have been found to play a central role in the nonsense-mediated mRNA decay (NMD) pathway, which is responsible for identifying and degrading mRNA sequences that contain premature termination codons (PTCs) – sequences that encode truncated amino acid sequences.^[9]

C14orf102 interacts with RNPS1, a gene encoding a protein that is known to be directly involved in nuclear export and surveillance of mRNA.^[10] Surveillance by the RNPS1 protein initiates NMD after identification of exported, PTC-containing mRNA. Because UPF0614 is expected to be located in the cytoplasm and function in protein binding, this interaction supports the potential role of UPF0614 in the NMD pathway.